Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Gm19965'

566298

Institutional Source

Beutler Lab

Gene Symbol

Gm19965

Ensembl Gene

ENSMUSG00000094429

Gene Name

predicted gene, 19965

Synonyms

MMRRC Submission

045362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116730713-116751140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116748921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 201 (V201M)

Ref Sequence

ENSEMBL: ENSMUSP00000137019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179777]

AlphaFold

J3QNY8

Predicted Effect

SMART Domains

Protein: ENSMUSP00000137019
Gene: ENSMUSG00000094429
AA Change: V201M

Domain	Start	End	E-Value	Type
KRAB	8	68	1.5e-36	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,921,714 (GRCm39)	M1447L	probably benign	Het
Adam30	G	A	3: 98,070,257 (GRCm39)	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,452 (GRCm39)	N689D	probably benign	Het
Adamts15	T	C	9: 30,813,906 (GRCm39)	K753R	probably benign	Het
Adra2a	T	C	19: 54,034,835 (GRCm39)	F64L	probably damaging	Het
Ankub1	A	G	3: 57,580,345 (GRCm39)	L104P	probably damaging	Het
Arel1	A	G	12: 84,988,719 (GRCm39)	V10A	probably benign	Het
Atad2	A	T	15: 57,962,047 (GRCm39)	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060 (GRCm39)	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099 (GRCm38)	D310E	probably damaging	Het
Caskin2	T	C	11: 115,695,615 (GRCm39)	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,212,620 (GRCm39)	N1598S	probably benign	Het
Cep250	A	T	2: 155,834,682 (GRCm39)	Q2202H	probably benign	Het
Ces5a	T	A	8: 94,261,311 (GRCm39)	T35S	probably damaging	Het
Cnot11	G	A	1: 39,579,020 (GRCm39)	W295*	probably null	Het
Cntnap5a	G	T	1: 116,149,619 (GRCm39)	W565L	probably damaging	Het
Dgka	T	C	10: 128,569,468 (GRCm39)	E148G	probably damaging	Het
Dnah14	G	A	1: 181,455,739 (GRCm39)	D955N	probably benign	Het
Erbin	G	A	13: 103,998,834 (GRCm39)	T184I	probably damaging	Het
Fam20c	G	T	5: 138,793,309 (GRCm39)	G477W	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,309,262 (GRCm39)	V433A	probably benign	Het
Gal3st1	A	T	11: 3,948,093 (GRCm39)	Q100L	possibly damaging	Het
Gfra2	T	C	14: 71,163,380 (GRCm39)	F221S	probably damaging	Het
Gnb1l	A	T	16: 18,382,806 (GRCm39)	T282S	probably benign	Het
Gpr171	A	T	3: 59,005,147 (GRCm39)	N209K	probably benign	Het
Greb1	G	A	12: 16,761,739 (GRCm39)	T547I	probably damaging	Het
Ifi214	A	T	1: 173,357,097 (GRCm39)	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,706,267 (GRCm39)	M1V	probably null	Het
Itm2b	C	T	14: 73,605,785 (GRCm39)	G67D	probably damaging	Het
Kif21a	A	T	15: 90,851,432 (GRCm39)	C995*	probably null	Het
Kifc2	A	T	15: 76,544,904 (GRCm39)	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,315,595 (GRCm39)	V59D	probably benign	Het
Lhx1	A	T	11: 84,412,703 (GRCm39)	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,365,121 (GRCm39)	Y187N	probably benign	Het
Map3k1	C	A	13: 111,904,645 (GRCm39)	V380F	probably damaging	Het
Mapk11	T	C	15: 89,028,511 (GRCm39)	D283G	probably damaging	Het
Mccc2	G	T	13: 100,091,207 (GRCm39)	A430D	probably damaging	Het
Mest	A	G	6: 30,747,158 (GRCm39)	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139 (GRCm39)	L340P	probably benign	Het
Mrnip	A	G	11: 50,087,808 (GRCm39)	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,502,063 (GRCm39)	T706A	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Ncstn	A	G	1: 171,900,373 (GRCm39)	F234S	probably benign	Het
Nrp1	T	C	8: 129,202,777 (GRCm39)		probably null	Het
Nup37	T	G	10: 88,010,356 (GRCm39)	C217G	probably damaging	Het
Or8g22	A	G	9: 38,958,694 (GRCm39)	L7P	unknown	Het
Pdzrn3	T	C	6: 101,128,206 (GRCm39)	N820S	probably benign	Het
Pgap1	A	T	1: 54,587,225 (GRCm39)	F117Y	possibly damaging	Het
Phip	A	T	9: 82,753,346 (GRCm39)	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,728,819 (GRCm39)	F74I	probably benign	Het
Prpf8	C	A	11: 75,384,783 (GRCm39)	N775K	possibly damaging	Het
Ptdss2	T	C	7: 140,731,693 (GRCm39)	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,501,892 (GRCm39)		probably null	Het
Rbl2	C	A	8: 91,841,669 (GRCm39)	A955D	probably benign	Het
Rgl1	A	G	1: 152,420,146 (GRCm39)	S366P	possibly damaging	Het
Rit2	A	T	18: 31,376,221 (GRCm39)	M38K	possibly damaging	Het
Robo1	A	G	16: 72,801,408 (GRCm39)	M1011V	probably benign	Het
Senp6	A	T	9: 80,043,797 (GRCm39)	E809D	probably benign	Het
Stard3	G	A	11: 98,269,045 (GRCm39)		probably null	Het
Taar3	T	G	10: 23,826,298 (GRCm39)	Y281*	probably null	Het
Tacc2	G	T	7: 130,331,103 (GRCm39)	K352N	probably benign	Het
Tamalin	G	A	15: 101,129,419 (GRCm39)	S234N	probably damaging	Het
Tasor	T	A	14: 27,160,610 (GRCm39)	I124N	probably damaging	Het
Tdpoz4	G	A	3: 93,704,155 (GRCm39)	V151I	not run	Het
Tenm2	A	G	11: 35,914,298 (GRCm39)	L2413P	probably damaging	Het
Tgm6	T	C	2: 129,983,110 (GRCm39)	V233A	probably damaging	Het
Tlx3	G	A	11: 33,153,514 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trim23	C	A	13: 104,323,941 (GRCm39)	H133Q	probably damaging	Het
Unc80	A	T	1: 66,640,356 (GRCm39)	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,360,048 (GRCm39)	N311S	unknown	Het
Vps25	T	A	11: 101,149,775 (GRCm39)	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,611,876 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,970,558 (GRCm39)	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,791,570 (GRCm39)	C158R	probably damaging	Het
Zfp786	G	A	6: 47,796,929 (GRCm39)	P670S	probably damaging	Het
Zfp827	G	A	8: 79,916,442 (GRCm39)	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,017,294 (GRCm39)	A1025V	possibly damaging	Het

Other mutations in Gm19965

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0993:Gm19965	UTSW	1	116,749,555 (GRCm39)	missense	probably benign	0.04
R1016:Gm19965	UTSW	1	116,749,031 (GRCm39)	nonsense	probably null
R1173:Gm19965	UTSW	1	116,748,550 (GRCm39)	splice site	probably benign
R1175:Gm19965	UTSW	1	116,748,550 (GRCm39)	splice site	probably benign
R1335:Gm19965	UTSW	1	116,732,349 (GRCm39)	missense	possibly damaging	0.79
R1773:Gm19965	UTSW	1	116,748,989 (GRCm39)	nonsense	probably null
R1802:Gm19965	UTSW	1	116,748,633 (GRCm39)	nonsense	probably null
R2884:Gm19965	UTSW	1	116,749,313 (GRCm39)	missense	probably benign	0.14
R3435:Gm19965	UTSW	1	116,749,353 (GRCm39)	missense	possibly damaging	0.78
R4072:Gm19965	UTSW	1	116,748,801 (GRCm39)	missense	probably benign	0.17
R4585:Gm19965	UTSW	1	116,749,508 (GRCm39)	missense	probably benign	0.00
R4801:Gm19965	UTSW	1	116,749,626 (GRCm39)	missense	probably benign
R4802:Gm19965	UTSW	1	116,749,626 (GRCm39)	missense	probably benign
R5328:Gm19965	UTSW	1	116,749,148 (GRCm39)	missense	possibly damaging	0.78
R5856:Gm19965	UTSW	1	116,749,579 (GRCm39)	missense	probably benign
R5960:Gm19965	UTSW	1	116,749,201 (GRCm39)	missense	possibly damaging	0.67
R6185:Gm19965	UTSW	1	116,749,003 (GRCm39)	missense	possibly damaging	0.61
R6297:Gm19965	UTSW	1	116,750,410 (GRCm39)	missense	possibly damaging	0.82
R6374:Gm19965	UTSW	1	116,750,021 (GRCm39)	missense	probably benign	0.06
R6811:Gm19965	UTSW	1	116,731,809 (GRCm39)	missense	probably damaging	1.00
R6860:Gm19965	UTSW	1	116,748,609 (GRCm39)	missense	probably benign	0.19
R7076:Gm19965	UTSW	1	116,749,005 (GRCm39)	missense
R7162:Gm19965	UTSW	1	116,750,095 (GRCm39)	missense	unknown
R7473:Gm19965	UTSW	1	116,749,602 (GRCm39)	missense	unknown
R7643:Gm19965	UTSW	1	116,749,959 (GRCm39)	missense	unknown
R7919:Gm19965	UTSW	1	116,749,850 (GRCm39)	nonsense	probably null
R8187:Gm19965	UTSW	1	116,749,532 (GRCm39)	nonsense	probably null
R8306:Gm19965	UTSW	1	116,749,515 (GRCm39)	missense
R8477:Gm19965	UTSW	1	116,730,854 (GRCm39)	start gained	probably benign
R8751:Gm19965	UTSW	1	116,749,867 (GRCm39)	missense	unknown
R8876:Gm19965	UTSW	1	116,749,776 (GRCm39)	missense	unknown
R9151:Gm19965	UTSW	1	116,748,942 (GRCm39)	missense
R9389:Gm19965	UTSW	1	116,749,566 (GRCm39)	missense
R9444:Gm19965	UTSW	1	116,732,393 (GRCm39)	missense
R9696:Gm19965	UTSW	1	116,749,210 (GRCm39)	missense
R9696:Gm19965	UTSW	1	116,730,838 (GRCm39)	start gained	probably benign
Z1088:Gm19965	UTSW	1	116,732,330 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GATCTATATCGAAACAAGTTCTGGG -3'
(R):5'- TCTCTGAGTAGATTTTGAGGGAAC -3'

Sequencing Primer
(F):5'- TATCGAAACAAGTTCTGGGAATGTAG -3'
(R):5'- TGAGGGAACTGCCATAAATTTTGAG -3'

Posted On

2019-06-26